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A researcher is working toward a future where one DNA-powered microchip can tell you all you need to know about your genetics.
Christofer Toumazou believes he can change the world with his “one chip, one bug—one chip, one drug,” slogan. Winner of the European Patent Office’s 2014 European Inventor award in the Research category, Toumazou has co-founded three “intelligent” medical diagnostics and therapy companies, each producing unique products and patents. He now holds more than 50 patents total, with 40 of them related to healthcare and semiconductor technology.
The EPO award, which crowns Toumazou as Europe’s top inventor, honors his patent for an invention he calls the Genealysis chip, an array of USB-like chips that can, through the unique process of using DNA biology to power a microchip, successfully analyze DNA within 30 minutes and without the use of a laboratory.
The road to this ground-breaking patent included a non-exclusive license of his technology to Ion Torrent—owned by Jonathan Rothberg and subsequently sold to Life Technologies (now part of Thermo Fisher Scientific) for $750 million—and was propelled by his son’s devastating genetic renal disease. Currently, the technology is being brought one step closer to consumers through the cosmetics industry, an unregulated market, as a means to remove the stigma associated with such devices.
From consumer electronics to biological microchips
Toumazou, currently the chief scientist for the Institute of Biomedical Engineering at Imperial College London, says his initial research was in consumer electronics, and it exposed him to the ever-changing digitalized world. While he regarded the transition as a great one for the consumer world, he saw it as problematic for the healthcare and biology sectors.
“My passion made the change from the more consumer-based digital world into the healthcare world by using similar technologies—microchips and computer chips that are used in the mobile phone arena—but then interfacing it to biology,” he says. “We don’t need the high precision of a digital world; what we need is for these devices to be intelligent, low-power and wearable. We want to take away the stigma and intrusiveness of these technologies.”
Using this philosophy, Toumazou entered what he calls a honeymoon in the medical arena, eventually working on a “replacement” cochlear prosthetic for born-deaf children. The result was a low-power microchip that could interface to a child’s biology with hardly any power consumption and could do the same thing as a traditional cochlear implant.
“For me, that was the start,” he says. “That was all about providing a therapy using microchips.”
As Toumazou continued to focus on microchips for biology, he co-founded Toumaz Technology and created a “digital patch,” something similar to small bandages, which sticks on the chest and continuously monitors vital signs using a miniature processor.
Not long after the development of Toumaz Technology, Toumazou’s son was diagnosed with a genetic renal disease, and subsequently, went into renal failure.
“The problem was not only that we detected it very late, but the fact that [there was] also this image that if we could have detected it early enough, then maybe we could have managed his lifestyle differently, so that when it did happen, it wouldn’t have happened with such force,” he says. “That experience brought me to the field of early detection.”
‘Consumer genetics’
Toumazou remembers the moment when then-U.S. president Bill Clinton stood on a podium on June 26, 2000 and announced that scientists had sequenced a complete human genome.
“I remember thinking, ‘If you can sequence one person’s genome, look for mutations and find errors in their code, then that will give you these genetic predispositions, such as my son’s renal disease. Now, imagine if millions of people could be sequenced,’” he says.
Not long after, Toumazou had a “wow moment” in his own work—realizing that scaling microchip technology could accommodate the field of genetics.
“In technology, we have gone from having these massive, great mainframe computers to handheld devices that can do things quickly, and they’ve become consumer products. They’ve been personalized,” he says. “So I thought ‘can we not do something with semiconductors for genetics?’”
The resulting technology is the basis for his EPO-winning patent. Toumazou and colleagues introduced DNA as the input of a microchip. When you match bases of DNA, you get a process of hybridization, and that is when you get the base pairs of DNA. When the pairs match, protons are released, and these protons cause a change in pH.
“In this particular instance, the pH changed on the surface of the semiconductor, and it was enough to turn the microchip on electrically,” Toumazou says. “This meant that, for the first time, we could turn on one of these computer chips without having electricity as the input, but having DNA as the input.”
But the developments didn’t stop there. Toumazou’s end goal was to create a device that would have DNA as the input, but have the output be a yes-or-no-answer as to whether or not a person had a particular genetic mutation.
“That was the objective of my work. I wanted to drive what we call ‘consumer genetics,’” he says. “I wanted to bring DNA sequencing and genetics to the point of care and not have big, lab-based machines that effectively are trying to sequence a whole genome.”
The Genealysis chip
Toumazou was eventually able to secure an investment from Malaysia-based Genting Group, using it to establish a new company, DNA Electronics. With the backing, Toumazou moved forward with creating the point-of-care handheld device that he had been envisioning all along. The objective was to create a sensor or a microchip array that would be immobilized for DNA.
“For example, if I was looking for a genetic renal disease mutation, I would put the code for that renal disease mutation on chip, take a sample of someone’s DNA and match it with the DNA on the chip,” Toumazou explains. “If it matched fully, that would give enough pH to turn on the transistor and I would know that person had the genetic mutation. If it didn’t match, then it would mean they didn’t.”
Officially created between 2004 and 2005 and running on Toumazou’s already patented ideas, Genealysis chips are USB-like sticks that come “premade,” that is, with the primer—the DNA one is trying to detect or measure—already loaded on the chip. It performs DNA analysis using a lab-on-a-chip mechanism that can execute the entire PCR process on the chip alone.
“Everything is done intelligently on the miniature, few-millimeter chip,” Toumazou says. “We can both amplify and detect the DNA we’re looking for simultaneously. That’s why it’s so fast and that’s why it’s so small.”
Driving personalized medicine
The full power of the Genealysis chips can be witnessed at GENEU, what Toumazou says is the world’s first genetic testing shop. Located on Bond Street in London, GENEU uses Genealysis chips to run a 30-second analysis on customers’ skin DNA and then provide them with high-end cosmetics to complement the results.
But why cosmetics?Because despite all the possibilities the chip may hold, there are still a number of barriers standing in the way of its public, and regulatory, acceptance. One of those barriers is the evidence-base.
“The reason we’re licensing to the beauty industry, which has a huge consumer base, is to bring medical-grade technology to an area which, I believe, has been previously full of placebo and pseudo-science,” Toumazou says. “What I’m trying to do is bring medical-grade technology to the consumer and, in this particular way, actually bring personalized medicine to the beauty industry…. You are taking the stigma away from the medical device. You’re getting the consumer to see and accept the fact that a genetic test is not a big deal.”
In the future, however, Toumazou hopes for Genealysis chips to be true medical diagnostic devices, backed by regulatory agencies and supported by clinicians. The uses for the chip, at its full potential, could bring the mindset of personalized medicine to a number of fields—from pharmacogenetics to infectious disease management.
“You see, we all differ by 0.1%. We’ve all got 3 billion bases of DNA and we differ by 0.1%, and it’s those 0.1% differences that I wanted to put on my microchip,” Toumazou says. “In the future, I hope we can add ‘one chip, one disease’ to the slogan,” he says.
